SNP Links for Protein (Select 46397369) - SNP

Links from Protein

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Select item 14704301961.

rs1470430196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:70340638 (GRCh38)
10:72100394 (GRCh37)
Canonical SPDI:: NC_000010.11:70340637:A:G
Gene:: LRRC20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.70340638A>G, NC_000010.10:g.72100394A>G, NM_018205.4:c.147T>C, NM_018205.3:c.147T>C, NM_207119.3:c.147T>C, NM_207119.2:c.147T>C, NM_001278211.2:c.147T>C, NM_001278211.1:c.147T>C, XM_017016375.2:c.147T>C, XM_017016375.1:c.147T>C, NM_001278212.2:c.147T>C, NM_001278212.1:c.147T>C, XM_017016374.2:c.147T>C, XM_017016374.1:c.147T>C, NM_001278214.2:c.-61T>C, NM_001278214.1:c.-61T>C, NR_103468.2:n.142T>C, NR_103468.1:n.167T>C, XM_047425421.1:c.147T>C, XM_047425419.1:c.147T>C, XM_047425420.1:c.147T>C, XM_047425422.1:c.-61T>C

Select item 14679904952.

rs1467990495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:70323981 (GRCh38)
10:72083737 (GRCh37)
Canonical SPDI:: NC_000010.11:70323980:A:C,NC_000010.11:70323980:A:G
Gene:: LRRC20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.70323981A>C, NC_000010.11:g.70323981A>G, NC_000010.10:g.72083737A>C, NC_000010.10:g.72083737A>G, NM_018239.4:c.132T>G, NM_018239.4:c.132T>C, NM_018239.3:c.132T>G, NM_018239.3:c.132T>C, NM_207119.3:c.282T>G, NM_207119.3:c.282T>C, NM_207119.2:c.282T>G, NM_207119.2:c.282T>C, NM_001278211.2:c.282T>G, NM_001278211.2:c.282T>C, NM_001278211.1:c.282T>G, NM_001278211.1:c.282T>C, XM_017016375.2:c.282T>G, XM_017016375.2:c.282T>C, XM_017016375.1:c.282T>G, XM_017016375.1:c.282T>C, NM_001278212.2:c.282T>G, NM_001278212.2:c.282T>C, NM_001278212.1:c.282T>G, NM_001278212.1:c.282T>C, XM_017016374.2:c.282T>G, XM_017016374.2:c.282T>C, XM_017016374.1:c.282T>G, XM_017016374.1:c.282T>C, NM_001278214.2:c.75T>G, NM_001278214.2:c.75T>C, NM_001278214.1:c.75T>G, NM_001278214.1:c.75T>C, NM_001278213.2:c.132T>G, NM_001278213.2:c.132T>C, NM_001278213.1:c.132T>G, NM_001278213.1:c.132T>C, NR_103467.2:n.127T>G, NR_103467.2:n.127T>C, NR_103467.1:n.152T>G, NR_103467.1:n.152T>C, XM_047425418.1:c.132T>G, XM_047425418.1:c.132T>C, XM_047425417.1:c.132T>G, XM_047425417.1:c.132T>C, XM_047425422.1:c.75T>G, XM_047425422.1:c.75T>C, NP_060709.2:p.Ser44Arg, NP_997002.1:p.Ser94Arg, NP_001265140.1:p.Ser94Arg, XP_016871864.1:p.Ser94Arg, NP_001265141.1:p.Ser94Arg, XP_016871863.1:p.Ser94Arg, NP_001265143.1:p.Ser25Arg, NP_001265142.1:p.Ser44Arg, XP_047281374.1:p.Ser44Arg, XP_047281373.1:p.Ser44Arg, XP_047281378.1:p.Ser25Arg

Select item 14610314653.

rs1461031465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:70323875 (GRCh38)
10:72083631 (GRCh37)
Canonical SPDI:: NC_000010.11:70323874:T:C
Gene:: LRRC20 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.70323875T>C, NC_000010.10:g.72083631T>C, NM_018239.4:c.238A>G, NM_018239.3:c.238A>G, NM_207119.3:c.388A>G, NM_207119.2:c.388A>G, NM_001278211.2:c.388A>G, NM_001278211.1:c.388A>G, XM_017016375.2:c.388A>G, XM_017016375.1:c.388A>G, NM_001278212.2:c.388A>G, NM_001278212.1:c.388A>G, XM_017016374.2:c.388A>G, XM_017016374.1:c.388A>G, NM_001278214.2:c.181A>G, NM_001278214.1:c.181A>G, NM_001278213.2:c.238A>G, NM_001278213.1:c.238A>G, NR_103467.2:n.233A>G, NR_103467.1:n.258A>G, XM_047425418.1:c.238A>G, XM_047425417.1:c.238A>G, XM_047425422.1:c.181A>G, NP_060709.2:p.Asn80Asp, NP_997002.1:p.Asn130Asp, NP_001265140.1:p.Asn130Asp, XP_016871864.1:p.Asn130Asp, NP_001265141.1:p.Asn130Asp, XP_016871863.1:p.Asn130Asp, NP_001265143.1:p.Asn61Asp, NP_001265142.1:p.Asn80Asp, XP_047281374.1:p.Asn80Asp, XP_047281373.1:p.Asn80Asp, XP_047281378.1:p.Asn61Asp

Select item 14604553184.

rs1460455318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:70323977 (GRCh38)
10:72083733 (GRCh37)
Canonical SPDI:: NC_000010.11:70323976:G:A,NC_000010.11:70323976:G:C
Gene:: LRRC20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.70323977G>A, NC_000010.11:g.70323977G>C, NC_000010.10:g.72083733G>A, NC_000010.10:g.72083733G>C, NM_018239.4:c.136C>T, NM_018239.4:c.136C>G, NM_018239.3:c.136C>T, NM_018239.3:c.136C>G, NM_207119.3:c.286C>T, NM_207119.3:c.286C>G, NM_207119.2:c.286C>T, NM_207119.2:c.286C>G, NM_001278211.2:c.286C>T, NM_001278211.2:c.286C>G, NM_001278211.1:c.286C>T, NM_001278211.1:c.286C>G, XM_017016375.2:c.286C>T, XM_017016375.2:c.286C>G, XM_017016375.1:c.286C>T, XM_017016375.1:c.286C>G, NM_001278212.2:c.286C>T, NM_001278212.2:c.286C>G, NM_001278212.1:c.286C>T, NM_001278212.1:c.286C>G, XM_017016374.2:c.286C>T, XM_017016374.2:c.286C>G, XM_017016374.1:c.286C>T, XM_017016374.1:c.286C>G, NM_001278214.2:c.79C>T, NM_001278214.2:c.79C>G, NM_001278214.1:c.79C>T, NM_001278214.1:c.79C>G, NM_001278213.2:c.136C>T, NM_001278213.2:c.136C>G, NM_001278213.1:c.136C>T, NM_001278213.1:c.136C>G, NR_103467.2:n.131C>T, NR_103467.2:n.131C>G, NR_103467.1:n.156C>T, NR_103467.1:n.156C>G, XM_047425418.1:c.136C>T, XM_047425418.1:c.136C>G, XM_047425417.1:c.136C>T, XM_047425417.1:c.136C>G, XM_047425422.1:c.79C>T, XM_047425422.1:c.79C>G, NP_060709.2:p.Leu46Val, NP_997002.1:p.Leu96Val, NP_001265140.1:p.Leu96Val, XP_016871864.1:p.Leu96Val, NP_001265141.1:p.Leu96Val, XP_016871863.1:p.Leu96Val, NP_001265143.1:p.Leu27Val, NP_001265142.1:p.Leu46Val, XP_047281374.1:p.Leu46Val, XP_047281373.1:p.Leu46Val, XP_047281378.1:p.Leu27Val

Select item 14591198575.

rs1459119857 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 10:70301462 (GRCh38)
10:72061218 (GRCh37)
Canonical SPDI:: NC_000010.11:70301461:G:
Gene:: LRRC20 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.70301462del, NC_000010.10:g.72061218del, NM_018239.4:c.297del, NM_018239.3:c.297del, NM_018205.4:c.279del, NM_018205.3:c.279del, NM_207119.3:c.447del, NM_207119.2:c.447del, NM_001278211.2:c.447del, NM_001278211.1:c.447del, XM_017016375.2:c.447del, XM_017016375.1:c.447del, NM_001278212.2:c.447del, NM_001278212.1:c.447del, XM_017016374.2:c.447del, XM_017016374.1:c.447del, NM_001278214.2:c.240del, NM_001278214.1:c.240del, NM_001278213.2:c.297del, NM_001278213.1:c.297del, NR_103467.2:n.292del, NR_103467.1:n.317del, NR_103468.2:n.274del, NR_103468.1:n.299del, XM_047425418.1:c.297del, XM_047425421.1:c.279del, XM_047425417.1:c.297del, XM_047425419.1:c.279del, XM_047425420.1:c.279del, XM_047425422.1:c.240del, NP_060709.2:p.Asn100fs, NP_060675.1:p.Asn94fs, NP_997002.1:p.Asn150fs, NP_001265140.1:p.Asn150fs, XP_016871864.1:p.Asn150fs, NP_001265141.1:p.Asn150fs, XP_016871863.1:p.Asn150fs, NP_001265143.1:p.Asn81fs, NP_001265142.1:p.Asn100fs, XP_047281374.1:p.Asn100fs, XP_047281377.1:p.Asn94fs, XP_047281373.1:p.Asn100fs, XP_047281375.1:p.Asn94fs, XP_047281376.1:p.Asn94fs, XP_047281378.1:p.Asn81fs

Select item 14542661376.

rs1454266137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:70340667 (GRCh38)
10:72100423 (GRCh37)
Canonical SPDI:: NC_000010.11:70340666:C:T
Gene:: LRRC20 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000010.11:g.70340667C>T, NC_000010.10:g.72100423C>T, NM_018205.4:c.118G>A, NM_018205.3:c.118G>A, NM_207119.3:c.118G>A, NM_207119.2:c.118G>A, NM_001278211.2:c.118G>A, NM_001278211.1:c.118G>A, XM_017016375.2:c.118G>A, XM_017016375.1:c.118G>A, NM_001278212.2:c.118G>A, NM_001278212.1:c.118G>A, XM_017016374.2:c.118G>A, XM_017016374.1:c.118G>A, NM_001278214.2:c.-90G>A, NM_001278214.1:c.-90G>A, NR_103468.2:n.113G>A, NR_103468.1:n.138G>A, XM_047425421.1:c.118G>A, XM_047425419.1:c.118G>A, XM_047425420.1:c.118G>A, XM_047425422.1:c.-90G>A, NP_060675.1:p.Gly40Ser, NP_997002.1:p.Gly40Ser, NP_001265140.1:p.Gly40Ser, XP_016871864.1:p.Gly40Ser, NP_001265141.1:p.Gly40Ser, XP_016871863.1:p.Gly40Ser, XP_047281377.1:p.Gly40Ser, XP_047281375.1:p.Gly40Ser, XP_047281376.1:p.Gly40Ser

Select item 14535430527.

rs1453543052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:70340571 (GRCh38)
10:72100327 (GRCh37)
Canonical SPDI:: NC_000010.11:70340570:T:A
Gene:: LRRC20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.70340571T>A, NC_000010.10:g.72100327T>A, NM_018205.4:c.214A>T, NM_018205.3:c.214A>T, NM_207119.3:c.214A>T, NM_207119.2:c.214A>T, NM_001278211.2:c.214A>T, NM_001278211.1:c.214A>T, XM_017016375.2:c.214A>T, XM_017016375.1:c.214A>T, NM_001278212.2:c.214A>T, NM_001278212.1:c.214A>T, XM_017016374.2:c.214A>T, XM_017016374.1:c.214A>T, NM_001278214.2:c.7A>T, NM_001278214.1:c.7A>T, NR_103468.2:n.209A>T, NR_103468.1:n.234A>T, XM_047425421.1:c.214A>T, XM_047425419.1:c.214A>T, XM_047425420.1:c.214A>T, XM_047425422.1:c.7A>T, NP_060675.1:p.Thr72Ser, NP_997002.1:p.Thr72Ser, NP_001265140.1:p.Thr72Ser, XP_016871864.1:p.Thr72Ser, NP_001265141.1:p.Thr72Ser, XP_016871863.1:p.Thr72Ser, NP_001265143.1:p.Thr3Ser, XP_047281377.1:p.Thr72Ser, XP_047281375.1:p.Thr72Ser, XP_047281376.1:p.Thr72Ser, XP_047281378.1:p.Thr3Ser

Select item 14426353788.

rs1442635378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:70376520 (GRCh38)
10:72136276 (GRCh37)
Canonical SPDI:: NC_000010.11:70376519:A:G
Gene:: LRRC20 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000052/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.70376520A>G, NC_000010.10:g.72136276A>G, NM_018239.4:c.14T>C, NM_018239.3:c.14T>C, NM_018205.4:c.14T>C, NM_018205.3:c.14T>C, NM_207119.3:c.14T>C, NM_207119.2:c.14T>C, NM_001278211.2:c.14T>C, NM_001278211.1:c.14T>C, XM_017016375.2:c.14T>C, XM_017016375.1:c.14T>C, NM_001278212.2:c.14T>C, NM_001278212.1:c.14T>C, XM_017016374.2:c.14T>C, XM_017016374.1:c.14T>C, NM_001278213.2:c.14T>C, NM_001278213.1:c.14T>C, XM_047425418.1:c.14T>C, XM_047425421.1:c.14T>C, XM_047425417.1:c.14T>C, XM_047425419.1:c.14T>C, XM_047425420.1:c.14T>C, NP_060709.2:p.Met5Thr, NP_060675.1:p.Met5Thr, NP_997002.1:p.Met5Thr, NP_001265140.1:p.Met5Thr, XP_016871864.1:p.Met5Thr, NP_001265141.1:p.Met5Thr, XP_016871863.1:p.Met5Thr, NP_001265142.1:p.Met5Thr, XP_047281374.1:p.Met5Thr, XP_047281377.1:p.Met5Thr, XP_047281373.1:p.Met5Thr, XP_047281375.1:p.Met5Thr, XP_047281376.1:p.Met5Thr

Select item 14342458049.

rs1434245804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:70301452 (GRCh38)
10:72061208 (GRCh37)
Canonical SPDI:: NC_000010.11:70301451:A:G
Gene:: LRRC20 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.70301452A>G, NC_000010.10:g.72061208A>G, NM_018239.4:c.307T>C, NM_018239.3:c.307T>C, NM_018205.4:c.289T>C, NM_018205.3:c.289T>C, NM_207119.3:c.457T>C, NM_207119.2:c.457T>C, NM_001278211.2:c.457T>C, NM_001278211.1:c.457T>C, XM_017016375.2:c.457T>C, XM_017016375.1:c.457T>C, NM_001278212.2:c.457T>C, NM_001278212.1:c.457T>C, XM_017016374.2:c.457T>C, XM_017016374.1:c.457T>C, NM_001278214.2:c.250T>C, NM_001278214.1:c.250T>C, NM_001278213.2:c.307T>C, NM_001278213.1:c.307T>C, NR_103467.2:n.302T>C, NR_103467.1:n.327T>C, NR_103468.2:n.284T>C, NR_103468.1:n.309T>C, XM_047425418.1:c.307T>C, XM_047425421.1:c.289T>C, XM_047425417.1:c.307T>C, XM_047425419.1:c.289T>C, XM_047425420.1:c.289T>C, XM_047425422.1:c.250T>C, NP_060709.2:p.Phe103Leu, NP_060675.1:p.Phe97Leu, NP_997002.1:p.Phe153Leu, NP_001265140.1:p.Phe153Leu, XP_016871864.1:p.Phe153Leu, NP_001265141.1:p.Phe153Leu, XP_016871863.1:p.Phe153Leu, NP_001265143.1:p.Phe84Leu, NP_001265142.1:p.Phe103Leu, XP_047281374.1:p.Phe103Leu, XP_047281377.1:p.Phe97Leu, XP_047281373.1:p.Phe103Leu, XP_047281375.1:p.Phe97Leu, XP_047281376.1:p.Phe97Leu, XP_047281378.1:p.Phe84Leu

Select item 143368078010.

rs1433680780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:70323918 (GRCh38)
10:72083674 (GRCh37)
Canonical SPDI:: NC_000010.11:70323917:C:A
Gene:: LRRC20 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.70323918C>A, NC_000010.10:g.72083674C>A, NM_018239.4:c.195G>T, NM_018239.3:c.195G>T, NM_207119.3:c.345G>T, NM_207119.2:c.345G>T, NM_001278211.2:c.345G>T, NM_001278211.1:c.345G>T, XM_017016375.2:c.345G>T, XM_017016375.1:c.345G>T, NM_001278212.2:c.345G>T, NM_001278212.1:c.345G>T, XM_017016374.2:c.345G>T, XM_017016374.1:c.345G>T, NM_001278214.2:c.138G>T, NM_001278214.1:c.138G>T, NM_001278213.2:c.195G>T, NM_001278213.1:c.195G>T, NR_103467.2:n.190G>T, NR_103467.1:n.215G>T, XM_047425418.1:c.195G>T, XM_047425417.1:c.195G>T, XM_047425422.1:c.138G>T, NP_060709.2:p.Gln65His, NP_997002.1:p.Gln115His, NP_001265140.1:p.Gln115His, XP_016871864.1:p.Gln115His, NP_001265141.1:p.Gln115His, XP_016871863.1:p.Gln115His, NP_001265143.1:p.Gln46His, NP_001265142.1:p.Gln65His, XP_047281374.1:p.Gln65His, XP_047281373.1:p.Gln65His, XP_047281378.1:p.Gln46His

Select item 142759340111.

rs1427593401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:70301413 (GRCh38)
10:72061169 (GRCh37)
Canonical SPDI:: NC_000010.11:70301412:G:T
Gene:: LRRC20 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.70301413G>T, NC_000010.10:g.72061169G>T, NM_018239.4:c.346C>A, NM_018239.3:c.346C>A, NM_018205.4:c.328C>A, NM_018205.3:c.328C>A, NM_207119.3:c.496C>A, NM_207119.2:c.496C>A, NM_001278211.2:c.496C>A, NM_001278211.1:c.496C>A, XM_017016375.2:c.496C>A, XM_017016375.1:c.496C>A, NM_001278212.2:c.496C>A, NM_001278212.1:c.496C>A, XM_017016374.2:c.496C>A, XM_017016374.1:c.496C>A, NM_001278214.2:c.289C>A, NM_001278214.1:c.289C>A, NM_001278213.2:c.346C>A, NM_001278213.1:c.346C>A, NR_103467.2:n.341C>A, NR_103467.1:n.366C>A, NR_103468.2:n.323C>A, NR_103468.1:n.348C>A, XM_047425418.1:c.346C>A, XM_047425421.1:c.328C>A, XM_047425417.1:c.346C>A, XM_047425419.1:c.328C>A, XM_047425420.1:c.328C>A, XM_047425422.1:c.289C>A, NP_060709.2:p.Pro116Thr, NP_060675.1:p.Pro110Thr, NP_997002.1:p.Pro166Thr, NP_001265140.1:p.Pro166Thr, XP_016871864.1:p.Pro166Thr, NP_001265141.1:p.Pro166Thr, XP_016871863.1:p.Pro166Thr, NP_001265143.1:p.Pro97Thr, NP_001265142.1:p.Pro116Thr, XP_047281374.1:p.Pro116Thr, XP_047281377.1:p.Pro110Thr, XP_047281373.1:p.Pro116Thr, XP_047281375.1:p.Pro110Thr, XP_047281376.1:p.Pro110Thr, XP_047281378.1:p.Pro97Thr

Select item 141137203112.

rs1411372031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:70376489 (GRCh38)
10:72136245 (GRCh37)
Canonical SPDI:: NC_000010.11:70376488:C:T
Gene:: LRRC20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.70376489C>T, NC_000010.10:g.72136245C>T, NM_018239.4:c.45G>A, NM_018239.3:c.45G>A, NM_018205.4:c.45G>A, NM_018205.3:c.45G>A, NM_207119.3:c.45G>A, NM_207119.2:c.45G>A, NM_001278211.2:c.45G>A, NM_001278211.1:c.45G>A, XM_017016375.2:c.45G>A, XM_017016375.1:c.45G>A, NM_001278212.2:c.45G>A, NM_001278212.1:c.45G>A, XM_017016374.2:c.45G>A, XM_017016374.1:c.45G>A, NM_001278213.2:c.45G>A, NM_001278213.1:c.45G>A, XM_047425418.1:c.45G>A, XM_047425421.1:c.45G>A, XM_047425417.1:c.45G>A, XM_047425419.1:c.45G>A, XM_047425420.1:c.45G>A

Select item 140473272913.

rs1404732729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:70340633 (GRCh38)
10:72100389 (GRCh37)
Canonical SPDI:: NC_000010.11:70340632:T:C
Gene:: LRRC20 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.70340633T>C, NC_000010.10:g.72100389T>C, NM_018205.4:c.152A>G, NM_018205.3:c.152A>G, NM_207119.3:c.152A>G, NM_207119.2:c.152A>G, NM_001278211.2:c.152A>G, NM_001278211.1:c.152A>G, XM_017016375.2:c.152A>G, XM_017016375.1:c.152A>G, NM_001278212.2:c.152A>G, NM_001278212.1:c.152A>G, XM_017016374.2:c.152A>G, XM_017016374.1:c.152A>G, NM_001278214.2:c.-56A>G, NM_001278214.1:c.-56A>G, NR_103468.2:n.147A>G, NR_103468.1:n.172A>G, XM_047425421.1:c.152A>G, XM_047425419.1:c.152A>G, XM_047425420.1:c.152A>G, XM_047425422.1:c.-56A>G, NP_060675.1:p.Gln51Arg, NP_997002.1:p.Gln51Arg, NP_001265140.1:p.Gln51Arg, XP_016871864.1:p.Gln51Arg, NP_001265141.1:p.Gln51Arg, XP_016871863.1:p.Gln51Arg, XP_047281377.1:p.Gln51Arg, XP_047281375.1:p.Gln51Arg, XP_047281376.1:p.Gln51Arg

Select item 140453028114.

rs1404530281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:70301473 (GRCh38)
10:72061229 (GRCh37)
Canonical SPDI:: NC_000010.11:70301472:A:G
Gene:: LRRC20 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70301473A>G, NC_000010.10:g.72061229A>G, NM_018239.4:c.286T>C, NM_018239.3:c.286T>C, NM_018205.4:c.268T>C, NM_018205.3:c.268T>C, NM_207119.3:c.436T>C, NM_207119.2:c.436T>C, NM_001278211.2:c.436T>C, NM_001278211.1:c.436T>C, XM_017016375.2:c.436T>C, XM_017016375.1:c.436T>C, NM_001278212.2:c.436T>C, NM_001278212.1:c.436T>C, XM_017016374.2:c.436T>C, XM_017016374.1:c.436T>C, NM_001278214.2:c.229T>C, NM_001278214.1:c.229T>C, NM_001278213.2:c.286T>C, NM_001278213.1:c.286T>C, NR_103467.2:n.281T>C, NR_103467.1:n.306T>C, NR_103468.2:n.263T>C, NR_103468.1:n.288T>C, XM_047425418.1:c.286T>C, XM_047425421.1:c.268T>C, XM_047425417.1:c.286T>C, XM_047425419.1:c.268T>C, XM_047425420.1:c.268T>C, XM_047425422.1:c.229T>C

Select item 139692974415.

rs1396929744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:70301359 (GRCh38)
10:72061115 (GRCh37)
Canonical SPDI:: NC_000010.11:70301358:G:A
Gene:: LRRC20 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.70301359G>A, NC_000010.10:g.72061115G>A, NM_018239.4:c.400C>T, NM_018239.3:c.400C>T, NM_018205.4:c.382C>T, NM_018205.3:c.382C>T, NM_207119.3:c.550C>T, NM_207119.2:c.550C>T, NM_001278211.2:c.550C>T, NM_001278211.1:c.550C>T, XM_017016375.2:c.550C>T, XM_017016375.1:c.550C>T, NM_001278212.2:c.550C>T, NM_001278212.1:c.550C>T, XM_017016374.2:c.550C>T, XM_017016374.1:c.550C>T, NM_001278214.2:c.343C>T, NM_001278214.1:c.343C>T, NM_001278213.2:c.400C>T, NM_001278213.1:c.400C>T, NR_103467.2:n.395C>T, NR_103467.1:n.420C>T, NR_103468.2:n.377C>T, NR_103468.1:n.402C>T, XM_047425418.1:c.400C>T, XM_047425421.1:c.382C>T, XM_047425417.1:c.400C>T, XM_047425419.1:c.382C>T, XM_047425420.1:c.382C>T, XM_047425422.1:c.343C>T, NP_060709.2:p.Pro134Ser, NP_060675.1:p.Pro128Ser, NP_997002.1:p.Pro184Ser, NP_001265140.1:p.Pro184Ser, XP_016871864.1:p.Pro184Ser, NP_001265141.1:p.Pro184Ser, XP_016871863.1:p.Pro184Ser, NP_001265143.1:p.Pro115Ser, NP_001265142.1:p.Pro134Ser, XP_047281374.1:p.Pro134Ser, XP_047281377.1:p.Pro128Ser, XP_047281373.1:p.Pro134Ser, XP_047281375.1:p.Pro128Ser, XP_047281376.1:p.Pro128Ser, XP_047281378.1:p.Pro115Ser

Select item 138887435416.

rs1388874354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:70323990 (GRCh38)
10:72083746 (GRCh37)
Canonical SPDI:: NC_000010.11:70323989:G:A,NC_000010.11:70323989:G:T
Gene:: LRRC20 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70323990G>A, NC_000010.11:g.70323990G>T, NC_000010.10:g.72083746G>A, NC_000010.10:g.72083746G>T, NM_018239.4:c.123C>T, NM_018239.4:c.123C>A, NM_018239.3:c.123C>T, NM_018239.3:c.123C>A, NM_207119.3:c.273C>T, NM_207119.3:c.273C>A, NM_207119.2:c.273C>T, NM_207119.2:c.273C>A, NM_001278211.2:c.273C>T, NM_001278211.2:c.273C>A, NM_001278211.1:c.273C>T, NM_001278211.1:c.273C>A, XM_017016375.2:c.273C>T, XM_017016375.2:c.273C>A, XM_017016375.1:c.273C>T, XM_017016375.1:c.273C>A, NM_001278212.2:c.273C>T, NM_001278212.2:c.273C>A, NM_001278212.1:c.273C>T, NM_001278212.1:c.273C>A, XM_017016374.2:c.273C>T, XM_017016374.2:c.273C>A, XM_017016374.1:c.273C>T, XM_017016374.1:c.273C>A, NM_001278214.2:c.66C>T, NM_001278214.2:c.66C>A, NM_001278214.1:c.66C>T, NM_001278214.1:c.66C>A, NM_001278213.2:c.123C>T, NM_001278213.2:c.123C>A, NM_001278213.1:c.123C>T, NM_001278213.1:c.123C>A, NR_103467.2:n.118C>T, NR_103467.2:n.118C>A, NR_103467.1:n.143C>T, NR_103467.1:n.143C>A, XM_047425418.1:c.123C>T, XM_047425418.1:c.123C>A, XM_047425417.1:c.123C>T, XM_047425417.1:c.123C>A, XM_047425422.1:c.66C>T, XM_047425422.1:c.66C>A, NP_060709.2:p.Ser41Arg, NP_997002.1:p.Ser91Arg, NP_001265140.1:p.Ser91Arg, XP_016871864.1:p.Ser91Arg, NP_001265141.1:p.Ser91Arg, XP_016871863.1:p.Ser91Arg, NP_001265143.1:p.Ser22Arg, NP_001265142.1:p.Ser41Arg, XP_047281374.1:p.Ser41Arg, XP_047281373.1:p.Ser41Arg, XP_047281378.1:p.Ser22Arg

Select item 136831875117.

rs1368318751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:70301475 (GRCh38)
10:72061231 (GRCh37)
Canonical SPDI:: NC_000010.11:70301474:G:A
Gene:: LRRC20 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.70301475G>A, NC_000010.10:g.72061231G>A, NM_018239.4:c.284C>T, NM_018239.3:c.284C>T, NM_018205.4:c.266C>T, NM_018205.3:c.266C>T, NM_207119.3:c.434C>T, NM_207119.2:c.434C>T, NM_001278211.2:c.434C>T, NM_001278211.1:c.434C>T, XM_017016375.2:c.434C>T, XM_017016375.1:c.434C>T, NM_001278212.2:c.434C>T, NM_001278212.1:c.434C>T, XM_017016374.2:c.434C>T, XM_017016374.1:c.434C>T, NM_001278214.2:c.227C>T, NM_001278214.1:c.227C>T, NM_001278213.2:c.284C>T, NM_001278213.1:c.284C>T, NR_103467.2:n.279C>T, NR_103467.1:n.304C>T, NR_103468.2:n.261C>T, NR_103468.1:n.286C>T, XM_047425418.1:c.284C>T, XM_047425421.1:c.266C>T, XM_047425417.1:c.284C>T, XM_047425419.1:c.266C>T, XM_047425420.1:c.266C>T, XM_047425422.1:c.227C>T, NP_060709.2:p.Ala95Val, NP_060675.1:p.Ala89Val, NP_997002.1:p.Ala145Val, NP_001265140.1:p.Ala145Val, XP_016871864.1:p.Ala145Val, NP_001265141.1:p.Ala145Val, XP_016871863.1:p.Ala145Val, NP_001265143.1:p.Ala76Val, NP_001265142.1:p.Ala95Val, XP_047281374.1:p.Ala95Val, XP_047281377.1:p.Ala89Val, XP_047281373.1:p.Ala95Val, XP_047281375.1:p.Ala89Val, XP_047281376.1:p.Ala89Val, XP_047281378.1:p.Ala76Val

Select item 136611079918.

rs1366110799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:70301358 (GRCh38)
10:72061114 (GRCh37)
Canonical SPDI:: NC_000010.11:70301357:G:A,NC_000010.11:70301357:G:C
Gene:: LRRC20 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.70301358G>A, NC_000010.11:g.70301358G>C, NC_000010.10:g.72061114G>A, NC_000010.10:g.72061114G>C, NM_018239.4:c.401C>T, NM_018239.4:c.401C>G, NM_018239.3:c.401C>T, NM_018239.3:c.401C>G, NM_018205.4:c.383C>T, NM_018205.4:c.383C>G, NM_018205.3:c.383C>T, NM_018205.3:c.383C>G, NM_207119.3:c.551C>T, NM_207119.3:c.551C>G, NM_207119.2:c.551C>T, NM_207119.2:c.551C>G, NM_001278211.2:c.551C>T, NM_001278211.2:c.551C>G, NM_001278211.1:c.551C>T, NM_001278211.1:c.551C>G, XM_017016375.2:c.551C>T, XM_017016375.2:c.551C>G, XM_017016375.1:c.551C>T, XM_017016375.1:c.551C>G, NM_001278212.2:c.551C>T, NM_001278212.2:c.551C>G, NM_001278212.1:c.551C>T, NM_001278212.1:c.551C>G, XM_017016374.2:c.551C>T, XM_017016374.2:c.551C>G, XM_017016374.1:c.551C>T, XM_017016374.1:c.551C>G, NM_001278214.2:c.344C>T, NM_001278214.2:c.344C>G, NM_001278214.1:c.344C>T, NM_001278214.1:c.344C>G, NM_001278213.2:c.401C>T, NM_001278213.2:c.401C>G, NM_001278213.1:c.401C>T, NM_001278213.1:c.401C>G, NR_103467.2:n.396C>T, NR_103467.2:n.396C>G, NR_103467.1:n.421C>T, NR_103467.1:n.421C>G, NR_103468.2:n.378C>T, NR_103468.2:n.378C>G, NR_103468.1:n.403C>T, NR_103468.1:n.403C>G, XM_047425418.1:c.401C>T, XM_047425418.1:c.401C>G, XM_047425421.1:c.383C>T, XM_047425421.1:c.383C>G, XM_047425417.1:c.401C>T, XM_047425417.1:c.401C>G, XM_047425419.1:c.383C>T, XM_047425419.1:c.383C>G, XM_047425420.1:c.383C>T, XM_047425420.1:c.383C>G, XM_047425422.1:c.344C>T, XM_047425422.1:c.344C>G, NP_060709.2:p.Pro134Leu, NP_060709.2:p.Pro134Arg, NP_060675.1:p.Pro128Leu, NP_060675.1:p.Pro128Arg, NP_997002.1:p.Pro184Leu, NP_997002.1:p.Pro184Arg, NP_001265140.1:p.Pro184Leu, NP_001265140.1:p.Pro184Arg, XP_016871864.1:p.Pro184Leu, XP_016871864.1:p.Pro184Arg, NP_001265141.1:p.Pro184Leu, NP_001265141.1:p.Pro184Arg, XP_016871863.1:p.Pro184Leu, XP_016871863.1:p.Pro184Arg, NP_001265143.1:p.Pro115Leu, NP_001265143.1:p.Pro115Arg, NP_001265142.1:p.Pro134Leu, NP_001265142.1:p.Pro134Arg, XP_047281374.1:p.Pro134Leu, XP_047281374.1:p.Pro134Arg, XP_047281377.1:p.Pro128Leu, XP_047281377.1:p.Pro128Arg, XP_047281373.1:p.Pro134Leu, XP_047281373.1:p.Pro134Arg, XP_047281375.1:p.Pro128Leu, XP_047281375.1:p.Pro128Arg, XP_047281376.1:p.Pro128Leu, XP_047281376.1:p.Pro128Arg, XP_047281378.1:p.Pro115Leu, XP_047281378.1:p.Pro115Arg

Select item 135729165419.

rs1357291654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:70340585 (GRCh38)
10:72100341 (GRCh37)
Canonical SPDI:: NC_000010.11:70340584:C:A
Gene:: LRRC20 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.70340585C>A, NC_000010.10:g.72100341C>A, NM_018205.4:c.200G>T, NM_018205.3:c.200G>T, NM_207119.3:c.200G>T, NM_207119.2:c.200G>T, NM_001278211.2:c.200G>T, NM_001278211.1:c.200G>T, XM_017016375.2:c.200G>T, XM_017016375.1:c.200G>T, NM_001278212.2:c.200G>T, NM_001278212.1:c.200G>T, XM_017016374.2:c.200G>T, XM_017016374.1:c.200G>T, NM_001278214.2:c.-8G>T, NM_001278214.1:c.-8G>T, NR_103468.2:n.195G>T, NR_103468.1:n.220G>T, XM_047425421.1:c.200G>T, XM_047425419.1:c.200G>T, XM_047425420.1:c.200G>T, XM_047425422.1:c.-8G>T, NP_060675.1:p.Ser67Ile, NP_997002.1:p.Ser67Ile, NP_001265140.1:p.Ser67Ile, XP_016871864.1:p.Ser67Ile, NP_001265141.1:p.Ser67Ile, XP_016871863.1:p.Ser67Ile, XP_047281377.1:p.Ser67Ile, XP_047281375.1:p.Ser67Ile, XP_047281376.1:p.Ser67Ile

Select item 135269014320.

rs1352690143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:70323988 (GRCh38)
10:72083744 (GRCh37)
Canonical SPDI:: NC_000010.11:70323987:T:C
Gene:: LRRC20 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.70323988T>C, NC_000010.10:g.72083744T>C, NM_018239.4:c.125A>G, NM_018239.3:c.125A>G, NM_207119.3:c.275A>G, NM_207119.2:c.275A>G, NM_001278211.2:c.275A>G, NM_001278211.1:c.275A>G, XM_017016375.2:c.275A>G, XM_017016375.1:c.275A>G, NM_001278212.2:c.275A>G, NM_001278212.1:c.275A>G, XM_017016374.2:c.275A>G, XM_017016374.1:c.275A>G, NM_001278214.2:c.68A>G, NM_001278214.1:c.68A>G, NM_001278213.2:c.125A>G, NM_001278213.1:c.125A>G, NR_103467.2:n.120A>G, NR_103467.1:n.145A>G, XM_047425418.1:c.125A>G, XM_047425417.1:c.125A>G, XM_047425422.1:c.68A>G, NP_060709.2:p.Glu42Gly, NP_997002.1:p.Glu92Gly, NP_001265140.1:p.Glu92Gly, XP_016871864.1:p.Glu92Gly, NP_001265141.1:p.Glu92Gly, XP_016871863.1:p.Glu92Gly, NP_001265143.1:p.Glu23Gly, NP_001265142.1:p.Glu42Gly, XP_047281374.1:p.Glu42Gly, XP_047281373.1:p.Glu42Gly, XP_047281378.1:p.Glu23Gly

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